Trisomy 11 and a complex t(11;11;22) in a patient with acute myelomonocytic leukemia (AML-M4) following myelodysplasia (MDS): a cytogenetic study of a mechanism of leukemogenesis

Cancer Genet Cytogenet. 2000 Jan 15;116(2):111-8. doi: 10.1016/s0165-4608(99)00117-x.

Abstract

We describe a 73-year-old man diagnosed with acute myelomonocytic leukemia (AML-M4) following myelodysplasia with trisomy 11 and with a t(11;11;22). This is the first case with both abnormalities present in the same cells and with the t(11;11;22) involving a chromosome 11 already duplicated at 11q23. This band contains the MLL gene that undergoes partial tandem duplication in patients with +11, which is "promiscuous," being translocated with a large number of genetic partners. Our patient had a complex karyotype that was completely defined by in situ hybridization. This technique demonstrated that the t(11;11;22) derivative with a duplication of band 11q23 carried from three to four copies of MLL. Two copies of the gene were close to each other and centromeric to the break-point region. Therefore, a partial tandem duplication of the MLL gene might have happened before the occurrence of t(11;11;22). Considering the associated chromosome defects, the monosomy for the long arm of chromosome 7, due to an unbalanced translocation t(7;17), further underlines the possibility that a partial tandem duplication of the MLL gene might have taken place.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Chromosomes, Human, Pair 11
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 7
  • DNA-Binding Proteins / genetics
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Male
  • Monosomy
  • Myelodysplastic Syndromes / genetics*
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes*
  • Transcription Factors*
  • Translocation, Genetic / genetics*
  • Trisomy / genetics*
  • Y Chromosome

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase